ALDH2[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 147639	GRCh38/hg38 12q24.12(chr12:111724654-111867329)x3	ACAD10, ALDH2 +8 more	Copy number gain	See cases	GBenign
Select item 152825	GRCh38/hg38 12q24.12(chr12:111746317-111815065)x3	ACAD10, ALDH2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 2495063	NM_000690.4(ALDH2):c.90G>T (p.Gln30His)	ALDH2 (Q30H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722590	NM_000690.4(ALDH2):c.121A>G (p.Ile41Val)	ALDH2 (I41V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2607877	NM_000690.4(ALDH2):c.197G>C (p.Cys66Ser)	ALDH2 (C66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537800	NM_000690.4(ALDH2):c.217A>G (p.Lys73Glu)	ALDH2 (K73E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779154	NM_000690.4(ALDH2):c.274C>A (p.Pro92Thr)	ALDH2 (P92T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2318429	NM_000690.4(ALDH2):c.304G>A (p.Gly102Ser)	ALDH2 (G102S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732699	NM_000690.4(ALDH2):c.313C>T (p.Leu105=)	ALDH2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2366738	NM_000690.4(ALDH2):c.337G>A (p.Glu113Lys)	ALDH2 (E113K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232293	NM_000690.4(ALDH2):c.341G>A (p.Arg114Gln)	ALDH2 (R114Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298371	NM_000690.4(ALDH2):c.346C>T (p.Arg116Trp)	ALDH2 (R116W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1050241	NM_000690.4(ALDH2):c.350C>T (p.Thr117Ile)	ALDH2 (T117I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3257668	NM_000690.4(ALDH2):c.361-8C>T	ALDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2279964	NM_000690.4(ALDH2):c.451G>A (p.Gly151Ser)	ALDH2 (G151S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743525	NM_000690.4(ALDH2):c.537C>T (p.Cys179=)	ALDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2322996	NM_000690.4(ALDH2):c.563C>T (p.Pro188Leu)	ALDH2 (P141L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035849	NM_000690.4(ALDH2):c.564G>A (p.Pro188=)	ALDH2	Single nucleotide variant (synonymous variant)	ALDH2-related disorder	GBenign
Select item 749442	NM_000690.4(ALDH2):c.731C>T (p.Thr244Met)	ALDH2 (T244M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 587489	NM_000690.4(ALDH2):c.802C>T (p.Arg268Cys)	ALDH2 (R268C +1 more)	Single nucleotide variant (missense variant)	Alcohol sensitivity, acute	GUncertain significance
Select item 714184	NM_000690.4(ALDH2):c.850T>C (p.Leu284=)	ALDH2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2348393	NM_000690.4(ALDH2):c.895G>A (p.Asp299Asn)	ALDH2 (D252N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769832	NM_000690.4(ALDH2):c.910G>A (p.Val304Met)	ALDH2 (V257M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2221979	NM_000690.4(ALDH2):c.1018G>A (p.Val340Ile)	ALDH2 (V293I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360699	NM_000690.4(ALDH2):c.1025G>C (p.Arg342Pro)	ALDH2 (R295P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750288	NM_000690.4(ALDH2):c.1044C>T (p.Val348=)	ALDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3283579	NM_000690.4(ALDH2):c.1157G>A (p.Cys386Tyr)	ALDH2 (C386Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728511	NM_000690.4(ALDH2):c.1249-10C>T	ALDH2, MIR6761	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 746328	NM_000690.4(ALDH2):c.1323G>A (p.Thr441=)	ALDH2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778989	NM_000690.4(ALDH2):c.1464G>A (p.Ser488=)	ALDH2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3109373	NM_000690.4(ALDH2):c.1471G>A (p.Gly491Ser)	ALDH2 (G444S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 18390	NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys)	ALDH2 (E504K +1 more)	Single nucleotide variant (missense variant)	ethanol response - Toxicity	Gdrug response
Select item 3283588	NM_000690.4(ALDH2):c.1525A>G (p.Thr509Ala)	ALDH2 (T509A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 624470	GRCh37/hg19 12q24.12(chr12:111861041-112280895)x3	ATXN2, BRAP +4 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394458	GRCh37/hg19 12q24.12-24.13(chr12:112194796-112304163)x3	ACAD10, ALDH2 +1 more	Copy number gain	See cases	GBenign/Likely benign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 226222	GRCh37/hg19 12q24.12-24.13(chr12:112183921-112318246)	ACAD10, MAPKAPK5 +1 more	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 226221	GRCh37/hg19 12q24.12-24.13(chr12:112183225-112327166)	MAPKAPK5, ACAD10 +1 more	Copy number gain	Abnormal esophagus morphology	GBenign

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Items: 43